Izifo ezithintekayo ezichaphazelekayo kunye nokuphulwa kwenani lama-chromosomes ekugcineni ulwazi olufumene ifa elifumanekayo lifumaneka kwi-1% yabantwana abasandul 'ukuzalwa, ngelixa i-20% yama-matriji asemva kwangaphambili ngenxa yesethi esingaqhelekanga yama-chromosomes kwimibusi. I-Patau syndrome enye ye-patromos chromosomal engahambelani nobomi obuqhelekileyo.
I-Patau Syndrome - yintoni esi sifo?
I-Patau syndrome ibonakaliswe kubukho kwiiseli zenye i-chromosome inombolo yeshumi elinesithathu, i-e. Esikhundleni sebhanki yama-chlorosome ene-homologous yale hlobo, kukho ezintathu zakhiwo. U-Anomaly uphinde uchazwe igama elithi "trisomy 13". Ngokuqhelekileyo, isethi yama-chromosomes kwiiseli zomzimba womntu (i-karyotype eqhelekileyo) imelwe ngamanqaku angama-46 (ii-paire ezingama-23), apho ezimbini zombini zijongene neempawu zesondo. Xa ufunda i-karyotype kwiiseli zegazi, utshintsho kwisakhiwo sama-chromosomes asithinteli kwimpilo yakhe singabonakaliswa kunoma yimuphi umntu, kodwa uyakwazi ukuzibonakalisa kwiintlobo.
I-Patau Syndrome - uhlobo lwelifa
Xa ufunyaniswa ngokuba ngu "Patau syndrome", i-karyotype iboniswa ngolu hlobo lwalolu hlobo: 47 XX (XY) 13+. Kule meko, iikopi ezintathu ze-chromosome yesithathu zingabakho kuzo zonke iiseli zomzimba, kwezinye iimeko i-chromosome eyongeziweyo eyongezelelweyo ifumaneka kwezinye iiseli. Oku kwenzeka ngenxa yephutha kwisahluko seeseli ekuqaleni kokuphuhliswa kwembungu emva kokuxhamla kweqanda kunye nesidoda, eyenzeka phantsi kwefuthe lalo nawuphi na umthelela wangaphakathi okanye wangaphandle. Ngaphezu koko, i-chromosome eyongezelelweyo ivela kumama kunye noyise, abangenalo ukuphambuka komzimba.
Ukongezelela, kukho iimeko apho inani elongezelelweyo le-chromosome ye-13 linamathele kwenye i-chromosome kwiqanda okanye kwiselfem cell, ebizwa ngokuba yi-translocation. Le yodwa uhlobo lwe-Patau syndrome engasasazwa kwenye yabazali. Abantu abathwali bezinto eziphathekayo zofuzo kwaye abangabonakali iimpawu zesifo banokuyithumela kubantwana abazalwa begula.
Ingozi ye-trisomy 13
I-Patau syndrome ebusweni kaninzi ibangelwa yingozi, apho kungekho mntu ukhuselweyo. Ngoku kutshanje, ezininzi izibini zinconywa ukuba zenze i-karyotyping ngaphambi kokucwangciswa kokukhulelwa, nangona ukuba ingozi enkulu yePatau syndrome okanye enye i-chromosomal inelolonga ayiyiyo. Olu buchule luhlola isethi yama-chromosomes yowesifazane kunye nendoda, ibonisa ukuphambuka okuhlukeneyo. Kancinci, ngenxa yokufundwa kwe-genome yabazali, kunokwenzeka ukuba uqikelele ukuba kukho ubungakanani bendlela yokufa yelifa.
Njengamanye amaninzi angama-chromosomal, isifo esicatshungulwayo kwiimeko ezininzi zivela kubantwana abakhulelwe ngabasetyhini abadala kunama-35-45 iminyaka. Ngoko ke, ekuqaleni kokukhulelwa kunqunywe ukuba kukho umngcipheko ophezulu wePatau syndrome, i- amniocentesis kukufundwa kweeseli zesisu zokuba zikhubazeke. Uhlalutyo olunjalo luqhutyelwa ngophakanyiso lokutshitshiswa kwesigxina se-uterine kunye nokuqokelela kwe-amniotic fluid kunye nobukho beeseli ezinqamle zomntwana.
I-Patau syndrome - ubukhulu bezinto ezikhoyo
I-karyotype, uphawu lwe-Patau syndrome, ibhalwa malunga nanye kwi-7-14,000 iintsana ezizalwayo ezizalwe ziphila. Oku kwenzeka kumakhwenkwe namantombazana kuyafana. Ukongezelela, ukukhulelwa kunye nokuphambuka kweso sifutshane kukulo qela elijongene nomngcipheko omkhulu wokukhulelwa kwesisu okanye ukuzala. Kwingama-75% yamatyala, abazali bezingane abanokuxilongwa abanalo i-chromosomal engafanelekiyo, iipasiti ezikhoyo zidibene nefa-ngenxa yokudluliselwa kwenombolo ye-chromosome ye-transmised 13 esuka komnye wabazali.
I-Patau Syndrome - izizathu ze
Iifom ezingenalo ifa zesifo asikakho izizathu ezicacileyo zokuqala, ukufundisisa izinto ezinokubangela ukuba kufuna uphando olunzima. Kuza kube yimhla, akukaze kusekwa ngokukodwa kwinqanaba le-failure xa kwenzeka - xa wenza iiseli zesini okanye xa wenza i-zygote. Kukholelwa ukuba enye i-chromosome ikwenza kube nzima ukufunda i-genome ngamaseli, okuba ngumqobo kumgangatho oqhelekileyo wokubunjwa kwamathambo, ukuphumelela nokuphumelela ngexesha lokukhula nokuphuhliswa kwazo.
Iingcali zenzululwazi zibonisa ukuba imbangela ye-Patau syndrome inokudibaniswa nezinto ezinjalo:
- ukuchithwa kwimizila emisebe yelanga;
- iziphumo ezinobuthi;
- izifo ezithathelwanayo;
- imeko engavumelekanga yendalo;
- imikhwa emibi kamama.
Patau syndrome - iimpawu
Kwezinye iimeko, xa kungekhona nje inani lamaseli emzimbeni onyatshintshiweyo, alubi kakhulu kwaye aluphuhlisi ngokukhawuleza ukuphazamiseka kweempawu, kodwa ngokuphindaphindiweyo ukuphambuka kubalulekile. Ngaphezu koko, ngaphezu kweetyala ezingaphandle ezingabonwa kwisithombeni, i-Patau syndrome ibonakaliswe ngamanani amaninzi eenxalenye zangaphakathi. Uninzi olunxaxhayo alupheli.
Masibhale ukuba zeziphi iimpawu ze-Patau's syndrome:
1. Ukudibana nenkqubo yeentlanzi:
- incitshu yomthamo;
- ukuphulwa komsebenzi we-hemispheres ye-cerebral;
- ukuphambuka kwentuthuko yengqondo;
- ukuphuhlisa imoto;
- i-cerebrospinal defect;
- ukungabikho kombono;
- cataract;
- optic nerve hypoplasia;
- microphthalmia;
- i-detectment ye-retina.
2. I-Musculoskeletal, i-skin incommalities:
- mfutshane;
- ukuguqula isimo se-auricles;
- ukulungiswa kweenyawo;
- hernia;
- ukungabikho kwesikhumba kunye neenwele;
- Ubukho beminwe engabonakaliyo kwizandla okanye ngesandla nasemilenzeni okanye emilenzeni;
- isimo se-flexor of brushes;
- ibhuloho yempumlo yelanga;
- umlomo wendawo ;
- umlomo .
3. Izimpawu ze-urrogenital:
- ii-cyst kwi-caltical layer of the kidneys;
- ukudibanisa kwabafundi;
- iimpazamo zomzimba.
Ezinye iziphulo:
- iimpembelelo zee-septum zentliziyo;
- ukuguqulwa kweenqanawa;
- ukuphazamiseka kwe-hormone secretion;
- ukufuduka kweepancreas;
- ukujika okungapheliyo kwamathumbu;
- ipeni e
I-Patau's syndrome - iindlela zokuxilonga
Emva kokuzalwa komntwana, ukuxilongwa kwe-Patau's syndrome ayibonakali nayiphi na ingxaki ngokuhlolwa okubonakalayo. Ukuqinisekisa ukuxilongwa, uvavanyo lwegazi lwenziwa ukuze lufumane i-genotype ye-Patau syndrome, i-ultrasound. Uhlalutyo lwe-Genetic luqhutyelwa nakwiimeko zokufa kwabantwana, okwenza kube lula ukufumana uhlobo lwesifo, ukuqonda ukuba lulifa (kubalulekile ukucwangcisa ngakumbi abantwana).
Iimvavanyo ze-Syndrome
Kubaluleke ngakumbi ukucacisa ngexesha elifanelekileyo ukuphambukiswa kwinqanaba lokuqala lokukhulelwa, okunokuthi lenziwe malunga nokuphela kwekota yokuqala. Ngaphambi kokuzalwa kwe-Trisomy 13 i-chromosome ingabonwa ngokuhlola iiseli ezivela kumniotic fluid (amniotic fluid) efunyenwe ngexesha le-amniocentesis okanye kwiiseli ezifunyenwe nge-chorion biopsy.
Uhlalutyo olungaphambi kokubeletha lunokwenziwa xa abazali basengozini yokuphucula i-pathology yelifa kunye nokujonga ulwazi oluthile lokufumana umntwana okhulelweyo. Ngezihlandlo ezahlukileyo, ezo ndlela zetampu zetampu zisetyenziselwa injongo yokuhlalutya indlela yokuphendula i-polymerase ye-chain reaction.
- ukususela kwiiveki ezi-8 ukuya kwe-12 - ukuthatha inani elincinane le-chorion (embryonic membrane);
- ukususela kwiiveki ezi-14 ukuya kwe-18 - ukukhethwa kwe-amniotic fluid equkethe iiseli ze-fetal ngokusebenzisa udonga lwangaphandle lwe-peritoneum;
- emva kweeveki ezingama-20 - ukutyhulwa kwesitya segazi somtya.
I-Syndrome Patau kwi-ultrasound
Ukuqala ngeveki yeshumi elinesibini yokukhulelwa, iziphene zentuthuko ebusweni zingabonwa ngoxilongo lwe-ultrasound. I-Patau's syndrome ibonakala ngokufumaneka kwezi zimpawu ezilandelayo:
- i-polyhydramnios kwabasetyhini abakhulelweyo ;
- intloko encinci ye-child in fetus;
- iminwe eyongezelelweyo kwimilenze;
- ukunyuka kwendawo yomzila;
- ubude beentliziyo, njl
Unyango lwe-Patau syndrome
Ngokudabukisayo, oku kunokuzwakala, kodwa abantwana abanePatau syndrome bayagula, ngenxa yokuba abagula. akunakwenzeka ukulungisa i-chromosomal engafanelekiyo. I-Syndrome i-Patau ithetha inqanaba elide le-idiocy, ukukhubazeka okupheleleyo. Abazali abaye bathetha ukuzala umntwana onokungaqhelekanga kufuneka bazimisele ukuba uya kufuna ukunakekelwa rhoqo kunye nokonyango. Amanyathelo angenelelo nophando lweziyobisi lunokwenziwa ukuze kulungiswe ukusebenza kweenkqubo ezibalulekileyo kunye nezitho, uphando lweplastiki, ukuthintela ukusuleleka kunye nokuvutha.
I-Patau's syndrome - i-prognosis
Kubantwana abaxilongwa ngokuba ne-Patau's syndrome, ukulindela ubomi kwiimeko ezininzi akudluli omnye unyaka. Ngokuqhelekileyo iintsana ezinjalo ziza kufa ekupheleni kweiveki okanye kwiinyanga emva kokuzalwa. Ngaphantsi kwe-15% yabantwana abahlala kwiminyaka emihlanu, kwaye kumazwe athuthukileyo anqanaba eliphezulu leenkqubo zokunakekelwa kwempilo, malunga ne-2% yezigulane zisinda kwiminyaka elishumi. Kule meko, nangona abo bagulane abangenawo umonakalo omkhulu womzimba, abakwazi ukuzivumelanisa nokuzinyamekela.